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469 related items for PubMed ID: 9240741

  • 21. Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients.
    Chang HH, Asano N, Ishii S, Ichikawa Y, Fan JQ.
    FEBS J; 2006 Sep; 273(17):4082-92. PubMed ID: 16934036
    [Abstract] [Full Text] [Related]

  • 22. Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value.
    Boot RG, Hollak CE, Verhoek M, Sloof P, Poorthuis BJ, Kleijer WJ, Wevers RA, van Oers MH, Mannens MM, Aerts JM, van Weely S.
    Hum Mutat; 1997 Sep; 10(5):348-58. PubMed ID: 9375849
    [Abstract] [Full Text] [Related]

  • 23. Secretion of human glucocerebrosidase from stable transformed insect cells using native signal sequences.
    Sinclair G, Pfeifer TA, Grigliatti TA, Choy FY.
    Biochem Cell Biol; 2006 Apr; 84(2):148-56. PubMed ID: 16609695
    [Abstract] [Full Text] [Related]

  • 24. RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease.
    Zimran A, Horowitz M.
    Am J Med Genet; 1994 Mar 01; 50(1):74-8. PubMed ID: 8160756
    [Abstract] [Full Text] [Related]

  • 25. Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease.
    van Weely S, van den Berg M, Barranger JA, Sa Miranda MC, Tager JM, Aerts JM.
    J Clin Invest; 1993 Mar 01; 91(3):1167-75. PubMed ID: 8450045
    [Abstract] [Full Text] [Related]

  • 26. Molecular analysis of Gaucher disease in a Vietnamese-Czechoslovak patient with high residual glucocerebrosidase activity.
    Choy FY, Woo M, Der Kaloustian VM.
    Am J Med Genet; 1991 Jun 15; 39(4):466-71. PubMed ID: 1877626
    [Abstract] [Full Text] [Related]

  • 27. Gaucher disease: comparative study of acid phosphatase and glucocerebrosidase in normal and type-1 Gaucher tissues.
    Choy FY.
    Am J Med Genet; 1985 Jul 15; 21(3):519-28. PubMed ID: 4025386
    [Abstract] [Full Text] [Related]

  • 28. Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations.
    Pomponio RJ, Cabrera-Salazar MA, Echeverri OY, Miller G, Barrera LA.
    Mol Genet Metab; 2005 Dec 15; 86(4):466-72. PubMed ID: 16185907
    [Abstract] [Full Text] [Related]

  • 29. Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations.
    Drugan C, Procopciuc L, Jebeleanu G, Grigorescu-Sido P, Dussau J, Poenaru L, Caillaud C.
    Eur J Hum Genet; 2002 Sep 15; 10(9):511-5. PubMed ID: 12173027
    [Abstract] [Full Text] [Related]

  • 30. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.
    Chabás A, Gort L, Díaz-Font A, Montfort M, Santamaría R, Cidrás M, Grinberg D, Vilageliu L.
    Blood Cells Mol Dis; 2005 Sep 15; 35(2):253-8. PubMed ID: 15967693
    [Abstract] [Full Text] [Related]

  • 31. Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.
    Emre S, Gürakan F, Yüce A, Rolf A, Scott R, Ozen H.
    Eur J Med Genet; 2008 Sep 15; 51(4):315-21. PubMed ID: 18586596
    [Abstract] [Full Text] [Related]

  • 32. Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.
    Amaral O, Marcão A, Sá Miranda M, Desnick RJ, Grace ME.
    Eur J Hum Genet; 2000 Feb 15; 8(2):95-102. PubMed ID: 10757640
    [Abstract] [Full Text] [Related]

  • 33. Gaucher disease: four families with previously undescribed mutations.
    Beutler E, Gelbart T, Balicki D, Demina A, Adusumalli J, Elsas L, Grinzaid KA, Gitzelmann R, Superti-Furga A, Kattamis C, Liou BB.
    Proc Assoc Am Physicians; 1996 May 15; 108(3):179-84. PubMed ID: 8774051
    [Abstract] [Full Text] [Related]

  • 34. Gaucher disease: complexity in a "simple" disorder.
    Sidransky E.
    Mol Genet Metab; 2004 May 15; 83(1-2):6-15. PubMed ID: 15464415
    [Abstract] [Full Text] [Related]

  • 35. Use of fluorescent substrates for characterization of Gaucher disease mutations.
    Ron I, Dagan A, Gatt S, Pasmanik-Chor M, Horowitz M.
    Blood Cells Mol Dis; 2005 May 15; 35(1):57-65. PubMed ID: 15916907
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  • 36. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
    Hruska KS, LaMarca ME, Scott CR, Sidransky E.
    Hum Mutat; 2008 May 15; 29(5):567-83. PubMed ID: 18338393
    [Abstract] [Full Text] [Related]

  • 37. Mutation analysis of 28 Gaucher disease patients: the Australasian experience.
    Lewis BD, Nelson PV, Robertson EF, Morris CP.
    Am J Med Genet; 1994 Jan 15; 49(2):218-23. PubMed ID: 8116672
    [Abstract] [Full Text] [Related]

  • 38. Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients.
    Grabowski GA, Goldblatt J, Dinur T, Kruse J, Svennerholm L, Gatt S, Desnick RJ.
    Am J Med Genet; 1985 Jul 15; 21(3):529-49. PubMed ID: 3927728
    [Abstract] [Full Text] [Related]

  • 39. Glucocerebrosidase recombinant allele: molecular evolution of the glucocerebrosidase gene and pseudogene in primates.
    Wafaei JR, Choy FY.
    Blood Cells Mol Dis; 2005 Jul 15; 35(2):277-85. PubMed ID: 16102985
    [Abstract] [Full Text] [Related]

  • 40. Expression and secretion of human glucocerebrosidase mediated by recombinant lentivirus vectors in vitro and in vivo: implications for gene therapy of Gaucher disease.
    Kim EY, Hong YB, Lai Z, Kim HJ, Cho YH, Brady RO, Jung SC.
    Biochem Biophys Res Commun; 2004 May 28; 318(2):381-90. PubMed ID: 15120612
    [Abstract] [Full Text] [Related]

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